Results 131 to 140 of about 4,015 (188)

Systematic review of autosomal recessive ataxias and proposal for a classification [PDF]

, 2017
Christopher J. Klein, Guy A. Rouleau, Marie Beaudin, Nicolas Dupré   +3 more
core   +1 more source

Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome. [PDF]

Mol Med
Sklenar M, Borecka S, Varga L, Bernardinelli E, Stanik J, Skopkova M, Sabo M, Ugorova D, Dossena S, Gasperikova D.   +9 more
europepmc   +1 more source

Potassium Channel Subunit Kir4.1 Mutated in Paroxysmal Kinesigenic Dyskinesia: Screening of an Italian Cohort. [PDF]

Mov Disord
Zorzi G, Zibordi F, Sorrentino U, Prokisch H, Garavaglia B, Zech M.   +5 more
europepmc   +1 more source

Cell-specific α and β subunit expression patterns of Na⁺/K⁺-ATPases in the common marmoset cochlea. [PDF]

Sci Rep
Hosoya M, Ueno M, Shimanuki MN, Nishiyama T, Oishi N, Ozawa H.   +5 more
europepmc   +1 more source

Astroglial Kir4.1 and AQP4 Channels: Key Regulators of Potassium Homeostasis and Their Implications in Autism Spectrum Disorders. [PDF]

Cell Mol Neurobiol
Abbasian V, Davoudi S, Vahabzadeh A, Maftoon-Azad MJ, Janahmadi M.   +4 more
europepmc   +1 more source

Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct. [PDF]

Mol Med
Bernardinelli E, Liuni R, Jamontas R, Tesolin P, Morgan A, Girotto G, Roesch S, Dossena S.   +7 more
europepmc   +1 more source

Flexible selection of diversified Na/K-ATPase α-subunit isoforms for osmoregulation in teleosts [PDF]

, 2016

core   +1 more source

Voltage-Gated Ion Channels Are Transcriptional Targets of Sox10 during Oligodendrocyte Development. [PDF]

Cells
Peters C, Aberle T, Sock E, Brunner J, Küspert M, Hillgärtner S, Wüst HM, Wegner M.   +7 more
europepmc   +1 more source

EAST (Epilepsy, Ataxia, Sensorineural Hearing Loss, and Renal Tubulopathy) Syndrome: A Rare Association Between Brain, Ear, and Kidney. [PDF]

Cureus
Vats A, Satpathy A, Sahoo B, Sahoo A, Nayak MK.   +4 more
europepmc   +1 more source

Activation of Kir4.1 Channels by 2-D08 Promotes Myelin Repair in Multiple Sclerosis. [PDF]

Adv Sci (Weinh)
Liu M, Jin S, Fu X, Xie C, Chen Y, Chang L, Fan Y, He D, Hong X, Shen X, Zheng X, Wang Q, Shi D, Li F, Ling D, Guan Y, Gong N, Tong X.   +17 more
europepmc   +1 more source